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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for AKAP6 |
 Gene summary |
| Gene information | Gene symbol | AKAP6 | Gene ID | 9472 |
| Gene name | A-kinase anchoring protein 6 | |
| Synonyms | ADAP100|ADAP6|AKAP100|PRKA6|mAKAP | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | A-kinase anchor protein 6A kinase (PRKA) anchor protein 6A-kinase anchor protein 100 kDaAKAP 100AKAP-6protein kinase A anchoring protein 6 | |
| Modification date | 20200313 | |
| UniProtAcc | B2RP22, | |
| Context | - 25644384(Genetic Contributions to Variation in General Cognitive Function: A Meta-Analysis of Genome-Wide Association Studies in the CHARGE Consortium (N=53949)) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AKAP6 | GO:0060306 | regulation of membrane repolarization | 11299204 |
| AKAP6 | GO:0071320 | cellular response to cAMP | 11299204 |
| AKAP6 | GO:1901381 | positive regulation of potassium ion transmembrane transport | 11299204 |
| AKAP6 | GO:1902261 | positive regulation of delayed rectifier potassium channel activity | 11299204 |
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Gene structures and expression levels for AKAP6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000151320
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AKAP6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_137746 | chr14 | 32732454:32732600:32735658:32735882:32773678:32773791 | 32735658:32735882 |
| exon_skip_212831 | chr14 | 32773678:32773893:32821402:32824815:32829848:32830817 | 32821402:32824815 |
| exon_skip_295842 | chr14 | 32678311:32678459:32695990:32696110:32732454:32732584 | 32695990:32696110 |
| exon_skip_5451 | chr14 | 32329400:32329408:32401998:32402141:32433460:32433817 | 32401998:32402141 |
| exon_skip_55592 | chr14 | 32546954:32546999:32577120:32577242:32599410:32599506 | 32577120:32577242 |
| exon_skip_6746 | chr14 | 32695990:32696110:32732454:32732600:32735658:32735725 | 32732454:32732600 |
| exon_skip_92721 | chr14 | 32545230:32546999:32577120:32577242:32599410:32599506 | 32577120:32577242 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for AKAP6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000280979 | 32821402 | 32824815 | 3UTR-3CDS |
| ENST00000280979 | 32577120 | 32577242 | In-frame |
| ENST00000280979 | 32732454 | 32732600 | In-frame |
| ENST00000280979 | 32735658 | 32735882 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000280979 | 32695990 | 32696110 | Frame-shift |
| ENST00000280979 | 32577120 | 32577242 | In-frame |
| ENST00000280979 | 32732454 | 32732600 | In-frame |
| ENST00000280979 | 32735658 | 32735882 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000280979 | 32695990 | 32696110 | Frame-shift |
| ENST00000280979 | 32577120 | 32577242 | In-frame |
| ENST00000280979 | 32732454 | 32732600 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AKAP6 |
p-ENSG00000151320_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000280979 | 15023 | 2319 | 32577120 | 32577242 | 2518 | 2639 | 782 | 823 |
| ENST00000280979 | 15023 | 2319 | 32732454 | 32732600 | 3172 | 3317 | 1000 | 1049 |
| ENST00000280979 | 15023 | 2319 | 32735658 | 32735882 | 3319 | 3542 | 1049 | 1124 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000280979 | 15023 | 2319 | 32577120 | 32577242 | 2518 | 2639 | 782 | 823 |
| ENST00000280979 | 15023 | 2319 | 32732454 | 32732600 | 3172 | 3317 | 1000 | 1049 |
| ENST00000280979 | 15023 | 2319 | 32735658 | 32735882 | 3319 | 3542 | 1049 | 1124 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000280979 | 15023 | 2319 | 32577120 | 32577242 | 2518 | 2639 | 782 | 823 |
| ENST00000280979 | 15023 | 2319 | 32732454 | 32732600 | 3172 | 3317 | 1000 | 1049 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13023 | 782 | 823 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 782 | 823 | 762 | 848 | Repeat | Note=Spectrin 1 |
| Q13023 | 1000 | 1049 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 1000 | 1049 | 1036 | 1150 | Repeat | Note=Spectrin 2 |
| Q13023 | 1049 | 1124 | 1050 | 1075 | Alternative sequence | ID=VSP_054497;Note=In isoform 2. KTLGEKIQDTMAGHSGSSPRDLLSPE->VFAFLLLFVGYVYIFCVVKYSVRFLI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13023 | 1049 | 1124 | 1076 | 2319 | Alternative sequence | ID=VSP_054498;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13023 | 1049 | 1124 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 1049 | 1124 | 1073 | 1073 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WVC7 |
| Q13023 | 1049 | 1124 | 1036 | 1150 | Repeat | Note=Spectrin 2 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13023 | 782 | 823 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 782 | 823 | 762 | 848 | Repeat | Note=Spectrin 1 |
| Q13023 | 1000 | 1049 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 1000 | 1049 | 1036 | 1150 | Repeat | Note=Spectrin 2 |
| Q13023 | 1049 | 1124 | 1050 | 1075 | Alternative sequence | ID=VSP_054497;Note=In isoform 2. KTLGEKIQDTMAGHSGSSPRDLLSPE->VFAFLLLFVGYVYIFCVVKYSVRFLI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13023 | 1049 | 1124 | 1076 | 2319 | Alternative sequence | ID=VSP_054498;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q13023 | 1049 | 1124 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 1049 | 1124 | 1073 | 1073 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WVC7 |
| Q13023 | 1049 | 1124 | 1036 | 1150 | Repeat | Note=Spectrin 2 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q13023 | 782 | 823 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 782 | 823 | 762 | 848 | Repeat | Note=Spectrin 1 |
| Q13023 | 1000 | 1049 | 1 | 2319 | Chain | ID=PRO_0000064530;Note=A-kinase anchor protein 6 |
| Q13023 | 1000 | 1049 | 1036 | 1150 | Repeat | Note=Spectrin 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AKAP6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for AKAP6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for AKAP6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AKAP6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AKAP6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AKAP6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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